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NM_181552.4(CUX1):c.676G>A (p.Ala226Thr) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 2, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004375342.1

Allele description [Variation Report for NM_181552.4(CUX1):c.676G>A (p.Ala226Thr)]

NM_181552.4(CUX1):c.676G>A (p.Ala226Thr)

Gene:
CUX1:cut like homeobox 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_181552.4(CUX1):c.676G>A (p.Ala226Thr)
HGVS:
  • NC_000007.14:g.102158561G>A
  • NG_029476.2:g.347658G>A
  • NM_001202543.2:c.709G>A
  • NM_001202544.3:c.661G>A
  • NM_001202545.3:c.571G>A
  • NM_001202546.3:c.598G>A
  • NM_001913.5:c.709G>A
  • NM_181500.4:c.709G>A
  • NM_181552.4:c.676G>AMANE SELECT
  • NP_001189472.1:p.Ala237Thr
  • NP_001189473.1:p.Ala221Thr
  • NP_001189474.1:p.Ala191Thr
  • NP_001189475.1:p.Ala200Thr
  • NP_001904.2:p.Ala237Thr
  • NP_852477.1:p.Ala237Thr
  • NP_853530.2:p.Ala226Thr
  • LRG_1123t1:c.676G>A
  • LRG_1123t2:c.709G>A
  • LRG_1123:g.347658G>A
  • LRG_1123p1:p.Ala226Thr
  • LRG_1123p2:p.Ala237Thr
  • NC_000007.13:g.101801841G>A
  • NM_001202543.1:c.709G>A
Protein change:
A191T
Molecular consequence:
  • NM_001202543.2:c.709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202544.3:c.661G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202545.3:c.571G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202546.3:c.598G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001913.5:c.709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181500.4:c.709G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181552.4:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004853238Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 2, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004853238.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 22, 2024